Search

Serpentine-like syndrome, characterized by the combination of intrathoracic stomach, a notably short esophagus anomaly, splenic abnormalities, and cervical spine malformations, has been associated with a high mortality rate since its identification in 2008. This report presents the case of a remarkable patient who recently celebrated her fifth birthday, marking her as the oldest documented individual with this syndrome to date. Highlighting the significance of comprehensive evaluations for concurrent malformations, the report discusses potential treatment modalities and challenges inherent in managing patients with this intricate syndrome. A comprehensive review of previously published cases is provided, comparing surgical interventions, causes of death, and age at the time of demise. This report underscores the importance of ongoing research and collaborative efforts to optimize outcomes for individuals afflicted with serpentine-like syndrome.

The Congenital Diaphragmatic Hernia Study Group (CDHSG) is an international consortium of medical centers actively collecting and voluntarily contributing data pertaining to live born congenital diaphragmatic hernia (CDH) patients born and/or managed at their institutions. These data are aggregated to construct a comprehensive registry that participating centers can access to address specific clinical inquiries and track patient outcomes. Since its establishment in 1995, 147 centers have taken part in this initiative, including 53 centers from 17 countries outside the United States, with 95 current active centers across the globe. The registry has amassed data on over 14,000 children, resulting in the creation of over 75 manuscripts based on registry data to date. International, multicenter consortia enable health care professionals managing uncommon, complex, and diverse diseases to formulate evidence-based hypotheses and draw meaningful and generalizable conclusions for clinical inquiries. This review will explore the formation and structure of the CDHSG and its registry, outlining their functions, center participation, and the evolution of data collection. Additionally, we will provide an overview of the evidence generated by the CDHSG, with a particular emphasis on contributions post-2014, and look ahead to the future directions the study group will take in addressing CDH. [ABSTRACT FROM AUTHOR]

Diaphragmatic hernias can be classified into congenital and acquired types. Most cases of congenital diaphragmatic hernia present early in life with respiratory distress while acquired diaphragmatic hernia usually presents following a history of trauma. Adult presentation of congenital diaphragmatic hernia is a rare finding and can remain asymptomatic for years until the herniated abdominal contents cause significant respiratory or gastrointestinal complications. This is a case report of a 55-year-old male patient presented to the emergency department with acute left-sided chest pain associated with dyspnea and abdominal distension. Chest roentgenogram showed gastric air bubble in the chest cavity. After initial resuscitation, CT thorax, abdomen, and pelvis was done which showed large diaphragmatic hernia with a wide central defect in the diaphragm with entire stomach and distal pancreas along with fat and omentum have been herniated into the thorax with organo-axial rotation of the stomach denoting volvulus and some degree of obstruction. Resultant marked distension of the stomach with air-fluid levels noted. Diagnosis of congenital diaphragmatic hernia can be challenging. Physical examination including auscultation of bowel sounds in the chest offers a diagnostic clue but the mainstay of diagnosis by chest imaging including chest roentgenogram and CT scan of the thorax and abdomen.

A 41-year-old man developed phrenic nerve palsy after the resection of anterior mediastinal tumor, who underwent diaphragmatic resection with an endostapler. After the surgery, the surgical stump ruptured, resulting in a large diaphragmatic defect with the liver prolapsing into the thoracic cavity. Then, the diaphragmatic defect was closed with a polytetrafluoroethylene (PTFE) patch. The diaphragm was reconstructed using a second PTFE patch overlaying the diaphragmatic defect that had been closed by the first PTFE patch, because solely patching the diaphragmatic defect had a risk of recurrence of diaphragmatic elevation due to remaining original diaphragm and the presence of phrenic nerve palsy. The second PTFE patch was fixed to the lower ribs by non-absorbable suture. The postoperative course was favorable. After 3 months, his symptoms and pulmonary function improved. We underwent double PTFE patch repair in a patient with both huge diaphragmatic defect and phrenic nerve palsy. [ABSTRACT FROM AUTHOR]

"Sweet" hydrothorax is a rare complication of peritoneal dialysis (PD). It is characterized by the presence of peritoneal fluid in the pleural cavity. We describe the case of a 41-year-old woman who developed this complication three days after starting continuous ambulatory peritoneal dialysis (CAPD). We present the current diagnostic approach and treatment of this rare complication. [ABSTRACT FROM AUTHOR]

A Bochdalek hernia is a common congenital diaphragmatic defect in infants. A late presentation during adulthood is rare with misleading signs and symptoms, resulting in misdiagnosis and errors in treatment. We describe a 30-year-old man who presented with abdominal pain and chronic choking sensation, which was previously treated as peptic ulcer disease. During the present admission, radiological imaging performed revealed loops of bowel and a gastric volvulus in the left hemithorax. The patient underwent a successful emergency surgery and repair of a Bochdalek hernia. Due to its rarity and ambiguous presentation, a symptomatic Bochdalek hernia in an adult is commonly misdiagnosed. A comprehensive evaluation is pertinent for early diagnosis and treatment, to prevent complications arising from obstruction and strangulation of herniated intraabdominal contents. [ABSTRACT FROM AUTHOR]

Non-traumatic hepatic hernia is defined as hepatic protrusion through acquired or congenital defects on diaphragm without prior trauma. This event is rare among adults and infrequently reported in literature. 52-year-old Caucasian woman with surgically treated breast cancer with suspected lung metastasis detected during a routine Multidetector Computed Tomography lung exam. Ultrasound and subsequently Magnetic Resonance Imaging (MRI) was performed which revealed an overdiaphragmatic mass in contiguity with liver parenchyma compatible with overdiaphragmatic hepatic hernia. Differential diagnosis should be made with diaphragmatic or pulmonary nodule. Correct diagnosis can avoid further diagnostic investigations or invasive procedures such as biopsy. Magnetic Resonance Imaging is a non-risky method and can clarify interpretative doubts. Currently there are still controversies about traumatic or idiopathic nature of this hernia.

Serpentine-like syndrome, characterized by the combination of intrathoracic stomach, a notably short esophagus anomaly, splenic abnormalities, and cervical spine malformations, has been associated with a high mortality rate since its identification in 2008. This report presents the case of a remarkable patient who recently celebrated her fifth birthday, marking her as the oldest documented individual with this syndrome to date. Highlighting the significance of comprehensive evaluations for concurrent malformations, the report discusses potential treatment modalities and challenges inherent in managing patients with this intricate syndrome. A comprehensive review of previously published cases is provided, comparing surgical interventions, causes of death, and age at the time of demise. This report underscores the importance of ongoing research and collaborative efforts to optimize outcomes for individuals afflicted with serpentine-like syndrome., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2024 Lohmann, Freund, Klein, Acero and Boemers.)

Congenital diaphragmatic hernia is a life-threatening anomaly with the high mortality rate in infancy. Very rarely they remain silent and manifest in the adult life. Once they manifest, the symptoms vary and are not easy to diagnose. The entity also has associated problems in the form of hypoplastic lungs and loss of domain of the abdomen. In such cases, the diagnosis is most often based on clinical suspicion and radiological confirmation. The treatment options are open abdominothoracic procedures or laparoscopic procedures. Once hernia is reduced, the defect is closed and should be reinforced with prosthetic mesh. Here we present a case of congenital diaphragmatic hernia in a teenager presenting with cardiac symptoms. The challenges faced in managing the case are discussed.

Abstract Background Catamenial pneumothorax is generally uncommon, with an incidence of less than 3–6% in women with spontaneous pneumothorax. As few cases of catamenial pneumothorax with diaphragmatic defect and liver herniation have been reported, this case report may be useful for understanding the cause and treatment. This case highlights the importance of the approach for liver hernia in patients with catamenial pneumothorax and endometriosis. Case presentation We report a case of catamenial pneumothorax in a 43-year-old woman with diaphragmatic partial liver hernia who was treated with thoracoscopic surgery. She was diagnosed with a right pneumothorax at menstruation onset. Chest computed tomography showed a nodule protruding above the right diaphragm. We performed thoracoscopic surgery to treat the persistent air leak and biopsied the nodule on the right diaphragm. There were blueberry spots on the diaphragm; the nodule was found to be the herniated liver. The diaphragmatic defect was sutured. Histological examination of the tissue near the partial prolapsed liver revealed endometrial tissue. Conclusions It is speculated that ectopic endometrial tissue in the diaphragm will periodically necrose to become a diaphragmatic tear, which is a pathway for air to enter the thoracic cavity and eventually a herniated liver. Thoracoscopic surgery should be considered in patients with catamenial pneumothorax when a diaphragmatic lesion is suspected.

Background: Peritoneal infection following pleural empyema is not a common occurrence. Concomitant pleural empyema and peritonitis have been described in the literature mostly in immunocompromised patients with different pathogenic mechanisms and a wide array of microorganisms. Here we report a case of concomitant pleural empyema and peritonitis with an unusual microorganism in an immunocompetent host. Case presentation: The patient is a 42-year-old man with a history of 2 weeks epigastric pain who had been referred for surgical consult after failure of outpatient medical therapy. Physical examination at emergency ward revealed generalized abdominal guarding, tenderness and rebound tenderness. On emergent laparotomy, the peritoneal cavity was full of malodor pus. All abdominal viscera were intact but there was a 2x2 centimeter defect in the top of left hemi-diaphragm. Pus originated from the left thoracic cavity and then drained to the peritoneal cavity. Morganella morganii grew in the culture of aspirated pleural fluid. After abdominal lavage and chest tube drainage and receiving 14 days course of parenteral antibiotics, the patient experienced marked clinical improvement. Punctual history taking revealed a history of pneumonia before the beginning of abdominal symptoms. Conclusion: In concomitant empyema and peritonitis in an immunocompetent patient, one should keep in mind the possibility of diaphragmatic defect and infection by unusual organisms like M. morganii.

Peritoneal scintigraphy, although rarely used, plays a vital role in the diagnosis of peritoneal dialysis catheter complications. Reported complications include spontaneous hydrothorax secondary to a pleuroperitoneal fistula, which requires the abandonment of peritoneal dialysis, given that a delay in diagnosis can lead to worsening clinical status. Previously reported peritoneal scintigraphy protocols recommended intraperitoneal instillation of radiotracer and moderate-to-large volumes of dialysate or sterile saline ranging from 350 to 2,000 mL. However, smaller volumes, in conjunction with the use of single-photon emission computed tomography/computed tomography, are not verified in patients receiving peritoneal scintigraphy imaging. [ABSTRACT FROM AUTHOR]

The prevalence of congenital hydrocephalus has been estimated at 1.1 per 1000 infants when including cases diagnosed before 1 year of age after exclusion of neural tube defects. Classification criteria are based either on CSF dynamics, pathophysiological mechanisms or associated lesions. Whereas inherited syndromic hydrocephalus has been associated with more than 100 disease-causing genes, only four genes are currently known to be linked to congenital hydrocephalus either isolated or as a major clinical feature: L1CAM, AP1S2, MPDZ and CCDC88C. In the past 10 years, pathogenic variants in CCDC88C have been documented but the neuropathology remains virtually unknown. We report the neuropathology of two foetuses from one family harbouring two novel compound heterozygous pathogenic variants in the CCDC88C gene: a maternally inherited indel in exon 22, c.3807_3809delinsACCT;p.(Gly1270Profs*53) and a paternally inherited deletion of exon 23, c.3967-?_c.4112-?;p.(Leu1323Argfs*10). Medical termination of pregnancy was performed at 18 and 23 weeks of gestation for severe bilateral ventriculomegaly. In both fetuses, brain lesions consisted of multifocal atresia-forking along the aqueduct of Sylvius and the central canal of the medulla, periventricular neuronal heterotopias and choroid plexus hydrops. The second fetus also presented lumbar myelomeningocele, left diaphragmatic hernia and bilateral renal agenesis. CCDC88C encodes the protein DAPLE which contributes to ependymal cell planar polarity by inhibiting the non-canonical Wnt signaling pathway and interacts with MPDZ and PARD3. Interestingly, heterozygous variants in PARD3 result in neural tube defects by defective tight junction formation and polarization process of the neuroepithelium. Besides, during organ formation Wnt signalling is a prerequisite for planar cell polarity pathway activation, and mutations in planar cell polarity genes lead to heart, lung and kidney malformations. Hence, candidate variants in CCDC88C should be carefully considered whether brain lesions are isolated or associated with malformations suspected to result from disorders of planar cell polarity. [ABSTRACT FROM AUTHOR]

Pentalogy of Cantrell (PC) is a rare congenital syndrome comprising five characteristic abnormalities that include midline anterior abdominal wall defect, sternal defect, diaphragmatic defect, defect in apical pericardium, and structural heart defect. The exact etiology of this syndrome is still unknown. However, many causative factors and association with other syndromes/aneuploidies (trisomy 18/trisomy 13) have been described in literature. Prognosis is often poor in cases with complete ectopia cordis with large defect. The postnatal surgical correction demands expert care in good resource settings. We are describing a rare case of severe form of PC with complete ectopia cordis and omphalocele, detected at 32 weeks of gestation. The patient had vaginal delivery of live female baby but unfortunately, the baby succumbed on day 2 of life. We are reporting this rare and fatal case to make health-care professionals more aware about importance of timely detection of such anomalies by anomaly scan in the second trimester before the period of viability so that the parents can make informed choice about termination of pregnancy in such lethal cases. Furthermore, the corrective surgeries can be planned beforehand with multidisciplinary approach in cases where affordability is not an issue for parents. [ABSTRACT FROM AUTHOR]

Thoracic ectopic kidney with congenital diaphragmatic hernia is a rare congenital malformation. We report a case of right thoracic ectopic kidney associated with congenital diaphragmatic hernia in a 4-year-old girl. Chest X-ray indicated the right diaphragmatic distention and contrast-enhanced CT showed thoracic ectopic kidney. We chose thoracoscopic approach for a complete anatomical repair. The bottom of the lower lobe of the right lung adhered to the hernia sac. Right thoracic ectopic kidney was pushed into abdominal cavity and congenital diaphragmatic defect was closed. Postoperative hemodynamics and renal function were normal. We review similar literatures and summarize surgical experience.

Sweet hydrothorax is a known, yet rare, complication of peritoneal dialysis. It can be life-threatening. This case is about a 70-year-old lady who presented with acute respiratory failure due to massive right-sided hydrothorax that developed insidiously over 3 months of starting peritoneal dialysis. Thoracentesis and technetium scan confirmed the diagnosis. Treatment was successful with hemodialysis. Key messages – Peritoneal Dialysis (PD) can be complicated by sweet hydrothorax. – Symptoms onset after initiation of PD and symptoms resolve with its discontinuation suggest the diagnosis. – High gradient glucose level between pleural fluid and plasma is a hallmark feature of sweet hydrothorax. – Patients with life-threatening symptoms can consider hemodialysis or surgical options.

Background: Peritoneal infection following pleural empyema is not a common occurrence. Concomitant pleural empyema and peritonitis have been described in the literature mostly in immunocompromised patients with different pathogenic mechanisms and a wide array of microorganisms. Here we report a case of concomitant pleural empyema and peritonitis with an unusual microorganism in an immunocompetent host. Case presentation: The patient is a 42-year-old man with a history of 2 weeks epigastric pain who had been referred for surgical consult after failure of outpatient medical therapy. Physical examination at emergency ward revealed generalized abdominal guarding, tenderness and rebound tenderness. On emergent laparotomy, the peritoneal cavity was full of malodor pus. All abdominal viscera were intact but there was a 2x2 centimeter defect in the top of left hemi-diaphragm. Pus originated from the left thoracic cavity and then drained to the peritoneal cavity. Morganella morganii grew in the culture of aspirated pleural fluid. After abdominal lavage and chest tube drainage and receiving 14 days course of parenteral antibiotics, the patient experienced marked clinical improvement. Punctual history taking revealed a history of pneumonia before the beginning of abdominal symptoms. Conclusion: In concomitant empyema and peritonitis in an immunocompetent patient, one should keep in mind the possibility of diaphragmatic defect and infection by unusual organisms like M. morganii. [ABSTRACT FROM AUTHOR]

Background: Catamenial pneumothorax is generally uncommon, with an incidence of less than 3-6% in women with spontaneous pneumothorax. As few cases of catamenial pneumothorax with diaphragmatic defect and liver herniation have been reported, this case report may be useful for understanding the cause and treatment. This case highlights the importance of the approach for liver hernia in patients with catamenial pneumothorax and endometriosis.Case Presentation: We report a case of catamenial pneumothorax in a 43-year-old woman with diaphragmatic partial liver hernia who was treated with thoracoscopic surgery. She was diagnosed with a right pneumothorax at menstruation onset. Chest computed tomography showed a nodule protruding above the right diaphragm. We performed thoracoscopic surgery to treat the persistent air leak and biopsied the nodule on the right diaphragm. There were blueberry spots on the diaphragm; the nodule was found to be the herniated liver. The diaphragmatic defect was sutured. Histological examination of the tissue near the partial prolapsed liver revealed endometrial tissue.Conclusions: It is speculated that ectopic endometrial tissue in the diaphragm will periodically necrose to become a diaphragmatic tear, which is a pathway for air to enter the thoracic cavity and eventually a herniated liver. Thoracoscopic surgery should be considered in patients with catamenial pneumothorax when a diaphragmatic lesion is suspected. [ABSTRACT FROM AUTHOR]

Introduction The Littre hernia is a rare complication of Meckel's diverticulum. Meckel's diverticulum is vestigial remnant of the omphalomesenteric duct occurring in approximately 2% of the general population with an estimated 4 to 16% risk of complications. Usual sites of the Littre hernia include inguinal (50%), umbilical (20%), and femoral (20%). We report a case of an acquired transthoracic Littre's hernia occurring through the left part of the diaphragm triggered by a history of traumatic rib fractures associated with alcohol abuse. Case Report A 71-year-old man presented with 4-day history of worsening shortness of breath, colicky lower abdominal pain, and inability to open bowels despite passing flatus, without nausea or vomiting. His past medical history was remarkable for multiple traumatic rib fractures caused by falls which were associated with excessive alcohol consumption. A noncontrast computed tomography (CT) scan of the abdomen and pelvis showed distended jejunal loops containing air/fluid levels likely resulting from herniated jejunum between the left chest wall and left diaphragm. An urgent laparotomy was performed which revealed small bowel and omentum herniating through a small defect in the left posterior hemidiaphragm. The contents of the sac were reduced and a Meckel's diverticulum was found inside the sac, characteristic of Littre's hernia. The diaphragmatic defect was closed and the Meckel diverticulum stapled and excised. Discussion Herniation of Meckel's diverticulum through the diaphragm most commonly occurs in the pediatric population. Acquired transthoracic Littre's hernia is rare and may arise following thoracobdominal trauma caused by surgery, motor vehicle accidents, and falls from height. Left-diaphragmatic tears are characteristically more clinically apparent and symptomatic than the right since the liver often has a protective effect on the right part of the diaphragm. Herniation of abdominal contents in the chest cavity causes respiratory distress and requires urgent surgical correction. Diagnosis is often delayed since diaphragmatic hernia tends to present very late after the initial trauma, subjecting the patient to possible life-threatening complications. While it is easier to reduce the herniated contents and repair the diaphragm via a thoracic approach, laparotomy is often preferred in cases of acute trauma associated with intra-abdominal injuries. Repair of Littre's hernia then consists of resection of the diverticulum and herniorraphy. Conclusion Internal Littre's hernia is usually of congenital origin. This is the first case of a transthoracic Littre's hernia caused by traumatic rib fractures. Hence, it is of utter importance that a clinician is aware of such uncommon pathology.

Bochdalek's diaphragmatic hernia (BDH) is a congenital defect of the diaphragm that usually present during the neonatal period and rarely remain silent until adulthood. We present a 45-year-old-female case with diagnosis of double left kidney tumor prepared for robot-assisted partial nephrectomy (RPN). During the preoperative procedure she had a reduction of inspiratory volumes and increased pulmonary pressures: the robotic camera revealed the incidental presence of the left diaphragmatic defect. We report a simultaneous nephron sparing surgery (NSS) and left posterolateral BDH correction done by the da Vinci Surgical Robot (Intuitive Surgical, Sunnyvale, CA).

Background: WT1 is one of the genes commonly reported as mutated in children with steroid-resistant nephrotic syndrome (SRNS). We analyzed genotype-phenotype correlations in pediatric SRNS patients with WT1 mutations. Methods: From 2001 to 2015, WT1 mutations were detected in 21 out of 354 children with SRNS by genetic screening (5.9 %). The patients were grouped into missense ( n = 11) and KTS splicing ( n = 10) mutation groups. Results: Nine (82 %) patients with missense mutations presented with congenital/infantile nephrotic syndrome, while 8 (80 %) with KTS splicing mutations presented with childhood-onset SRNS. Progression to end-stage renal disease (ESRD) was noted in all patients with missense mutations (median age, 2.6 months; interquartile range [IQR], 0.8 months to 1.7 years) and in 5 patients with KTS splicing mutations (median, 9.3 years; IQR, 3.3-16.5 years). Disorders of sexual development (DSDs) were noted in all 12 patients with a 46, XY karyotype and in only 1 of the 8 patients with a 46, XX karyotype. One patient developed a Wilms tumor and another developed gonadoblastoma. Three patients had a diaphragmatic defect or hernia. Conclusions: WT1 mutations manifest as a wide spectrum of renal and extra-renal phenotypes. Genetic diagnosis is essential for overall management and to predict the genotype-specific risk of DSDs and the development of malignancies. [ABSTRACT FROM AUTHOR]